esv3885660
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 100 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3885660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
esv3885660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv24851973 | sva insertion | HG00105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,568 |
essv24851974 | sva insertion | HG00258 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,495 |
essv24851975 | sva insertion | HG00699 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,205 |
essv24851976 | sva insertion | HG00737 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,164 |
essv24851977 | sva insertion | HG02047 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,700 |
essv24851978 | sva insertion | HG02075 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,497 |
essv24851979 | sva insertion | HG02127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,321 |
essv24851980 | sva insertion | HG02649 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,474 |
essv24851981 | sva insertion | HG03615 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,507 |
essv24851982 | sva insertion | HG03616 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,585 |
essv24851983 | sva insertion | HG03814 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,493 |
essv24851984 | sva insertion | HG03899 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,677 |
essv24851985 | sva insertion | HG04006 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,662 |
essv24851986 | sva insertion | HG04096 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,645 |
essv24851987 | sva insertion | HG04107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,794 |
essv24851988 | sva insertion | HG04209 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,433 |
essv24851989 | sva insertion | NA12058 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,433 |
essv24851990 | sva insertion | NA18599 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,511 |
essv24851991 | sva insertion | NA18637 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,682 |
essv24851992 | sva insertion | NA18966 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,609 |
essv24851993 | sva insertion | NA18976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,067 |
essv24851994 | sva insertion | NA18978 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,381 |
essv24851995 | sva insertion | NA18988 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,938 |
essv24851996 | sva insertion | NA19054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,359 |
essv24851997 | sva insertion | NA19059 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,396 |
essv24851998 | sva insertion | NA19065 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,340 |
essv24851999 | sva insertion | NA19068 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,728 |
essv24852000 | sva insertion | NA19716 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,327 |
essv24852001 | sva insertion | NA20878 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,377 |
essv24852002 | sva insertion | NA20884 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,688 |
essv24852003 | sva insertion | NA21103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,842 |
essv24852004 | sva insertion | NA21127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,746 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv24851973 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851974 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851975 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851976 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851977 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851978 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851979 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851980 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851981 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851982 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851983 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851984 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851985 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851986 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851987 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851988 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851989 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851990 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851991 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851992 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851993 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851994 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851995 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851996 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851997 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851998 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851999 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24852000 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24852001 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24852002 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24852003 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24852004 | Remapped | Perfect | NC_000020.11:g.489 61703_48961704ins2 69 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,961,703 | 48,961,703 |
essv24851973 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851974 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851975 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851976 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851977 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851978 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851979 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851980 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851981 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851982 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851983 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851984 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851985 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851986 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851987 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851988 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851989 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851990 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851991 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851992 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851993 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851994 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851995 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851996 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851997 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851998 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24851999 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24852000 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24852001 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24852002 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24852003 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 | ||
essv24852004 | Submitted genomic | NC_000020.10:g.475 78240_47578241ins2 69 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,578,240 | 47,578,240 |